Carnitine Palmitoyltransferase Deficiencies

Bonnefont, Jean‐Paul; Prip‐Buus, Carina; Saudubray, Jean‐Marie; Brivet, M.; Abadi, Nourredine; Thuillier, Laure

doi:10.1006/mgme.1999.2938

Cited by 210 publications

(150 citation statements)

References 123 publications

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“…While several mutations have been related to the late-onset and infantile forms (Taroni et al 1993), until now, only four individual mutations, all located in the CPT II gene, have been identified in individual patients suffering the neonatal form of CPT II deficiency (Bonnefont et al 1999).…”

Section: Discussionmentioning

confidence: 99%

“…The most common mutation in (adult) CPT II deficiency is the S113L substitution (Taroni et al 1993), while several other mutations have also been identified in individual patients suffering the late-onset and infantile forms. But to date, only four individual mutations, all located in the CPT II gene, have been found in patients with the neonatal form of CPT II deficiency (Bonnefont et al 1999).…”

Section: Introductionmentioning

confidence: 99%

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A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Smeets¹,

Smeitink²,

Semmekrot

et al. 2003

J Hum Genet

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Smeets¹,

Smeitink²,

Semmekrot

et al. 2003

J Hum Genet

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“…The CPT enzyme system consists of several mitochondrial membrane-bound enzymes: CPT I, CPT II (EC 2.3.1.21), and carnitine-acylcarnitine translocase. CPT II is located on the inner aspect of the inner mitochondrial membrane and converts long-chain acylcarnitines to long-chain acyl-CoAs [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…The neonatal form is more severe than the infantile form. Many sudden death cases are reported, most often during the first month of life [1][2][3]7,8].…”

Section: Introductionmentioning

confidence: 99%

“…Various mutations of the CPT2 gene have been reported and some of the more severe mutations are fatal [1][2][3]. Carnitine palmitoyltransferase 2 gene polymorphisms have not been reported to affect enzyme activity, although a thermolabile phenotype of the CPT2 polymorphism (F352C) has been recently reported to reduce enzyme activity at high temperature [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

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Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy

Yamamoto

Tanaka

Emoto

et al. 2014

Brain and Development

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Rationale: Carnitine palmitoyltransferase (CPT) II is one of a pivotal enzyme in mitochondrial fatty acid oxidation, which is essential for energy production during simultaneous glucose sparing and a requirement for major energy supply, such as prolonged fasting or exercise. When infants require more energy than provided by the glycolytic system, they rely on the mitochondrial fatty acid oxidation pathway.Mutations of the CPT2 gene have been reported to cause sudden unexpected death in infancy (SUDI). A thermolabile phenotype of a CPT2 polymorphism (F352C) has been recently reported to reduce CPT II enzyme activity. The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy. However, a relationship between CPT2 gene polymorphism and SUDI has not been described. Methods: Single nucleotide polymorphisms of the CPT2 gene were investigated among 54 SUDI cases and 200 healthy volunteers.Results: The frequency of the C allele was significantly higher in the SUDI group than in the control group [25.0% vs 16.0%, odds ratio (OR) = 1.75, 95% confidence interval (CI) = 1.05-2.92, p = 0.030). The frequency of the F352C homozygote was significantly higher in the SUDI group than in control group (11.1% vs 3.5%, OR = 3 3.45, 95% CI = 1.11-10.73, p = 0.036). Conclusion: The F352C CPT2 variant might be a genetic risk factor for SUDI.

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Muscle Carnitine Palmitoyltransferase II Deficiency

Deschauer

Wieser²,

Zierz³

2005

Arch Neurol

116

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uscle carnitine palmitoyltransferase (CPT) II deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by attacks of myalgia and myoglobinuria. This review summarizes the clinical features of this disease, analyzing data of 28 patients with biochemically and genetically confirmed CPT II deficiency. The review shows that exercise-induced myalgia is the most frequent symptom, whereas myoglobinuria, known as the clinical hallmark, is missing in 21% of the patients. Typically, myalgia starts in childhood, whereas attacks with myoglobinuria mostly emerge in adolescence or early adulthood. However, there are also patients with only myalgia, patients with attacks triggered by factors other than exercise, and patients with late-onset disease. Molecular or biochemical analysis is necessary for diagnosis, since no myopathologic hallmark exists. For screening patients, analysis of not only the common S113L mutation but also the P50H and Q413fs-F448L mutations is recommended. The phenotype of muscle CPT II deficiency might be influenced by the underlying mutation, and patients with a truncating mutation on 1 allele might be affected more severely.

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Carnitine Palmitoyltransferase Deficiencies

Cited by 210 publications

References 123 publications

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy

Muscle Carnitine Palmitoyltransferase II Deficiency

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